Congenital ophthalmoplegia. A myopathic aetiology in two siblings.

The two members of a two sibship family, a boy aged 15 years and his sister aged 11 years, show a striking limitation of ocular gaze believed to have been present from birth. There are no other com-parable cases in the family. Both patients were floppy infants and the boy has in recent years developed limb girdle weakness of myopathic type. There is also a familial abnormal amninoaciduria and the possible relationship between this, the ophthalmoplegia, the floppiness at birth, and the features of limb girdle myopathy is discussed in detail in another communication (Hurwitz, Carson, and Allen, 1968). In this paper evidence is given suggesting that the congenital ophthalmoplegia is due to a myopathic process.